Variant report

Variant	esv3447523
Chromosome Location	chr6:161054662-161068960
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 330 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:330 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555197263	chr6:161055602-161055603	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs568778679	chr6:161055653-161055654	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs534148033	chr6:161055665-161055666	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs7765684	chr6:161055671-161055672	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs138874197	chr6:161055684-161055685	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs546313895	chr6:161055707-161055708	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs558463343	chr6:161055712-161055713	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs575444815	chr6:161055722-161055723	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs544083404	chr6:161055728-161055729	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs561197215	chr6:161055748-161055749	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs529955909	chr6:161055756-161055757	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs539818671	chr6:161055759-161055760	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs559749724	chr6:161055769-161055770	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs532065092	chr6:161055784-161055785	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs552293451	chr6:161055794-161055795	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs568861679	chr6:161055799-161055800	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs531893512	chr6:161055807-161055808	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs548511147	chr6:161055809-161055810	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs568741737	chr6:161055812-161055813	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs534526388	chr6:161055814-161055815	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs554195049	chr6:161055823-161055824	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs570899684	chr6:161055824-161055825	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs7746273	chr6:161055827-161055828	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs556576475	chr6:161055830-161055831	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs386707834	chr6:161055838-161055839	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs576472312	chr6:161055842-161055843	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs544362204	chr6:161055844-161055845	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs554367833	chr6:161055847-161055848	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs574372294	chr6:161055849-161055850	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs540174172	chr6:161055857-161055858	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs559712095	chr6:161055863-161055864	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs532085174	chr6:161055870-161055871	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs545491716	chr6:161055876-161055877	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs73785613	chr6:161055885-161055886	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs531327483	chr6:161055898-161055899	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs548742135	chr6:161055913-161055914	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs7746421	chr6:161055924-161055925	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs527981869	chr6:161055944-161055945	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs7746435	chr6:161055947-161055948	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs571167956	chr6:161055963-161055964	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs539783384	chr6:161055975-161055976	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs549924101	chr6:161055976-161055977	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs570109748	chr6:161055996-161055997	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs535607283	chr6:161056002-161056003	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs574336247	chr6:161056003-161056004	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs533739245	chr6:161056008-161056009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs111657849	chr6:161056011-161056012	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs577078430	chr6:161056019-161056020	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs545754928	chr6:161056026-161056027	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs562371273	chr6:161056030-161056031	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chordoma	18071362	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Carotid artery disease	21127300	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161055600-161056000	Active TSS	Fetal Heart	heart
2	chr6:161055600-161056000	ZNF genes & repeats	Stomach Mucosa	stomach
3	chr6:161055600-161056200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
4	chr6:161055800-161056000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
5	chr6:161055800-161056000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:161055800-161056000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:161055800-161056000	ZNF genes & repeats	Fetal Brain Male	brain
8	chr6:161055800-161056200	ZNF genes & repeats	Fetal Stomach	stomach
9	chr6:161056200-161069400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr6:161063400-161067800	Weak transcription	Liver	Liver
11	chr6:161067800-161072400	Strong transcription	Liver	Liver

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